Results 151 to 160 of about 21,243 (259)

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype

, 2020
Eline A. Verberne, Lotje Dalen Meurs, Nicole I. Wolf, Mieke M. van Haelst   +3 more
openalex   +1 more source

Chorea in Hereditary Leukodystrophies - Overview of Two Cases. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Milovanović A, Ječmenica-Lukić M, Mazalica N, Radišić V, Đorđević-Milošević M, Marjanović A, Branković M, Marković V, Kresojević N, Kostić V, Dragašević-Mišković N.   +10 more
europepmc   +1 more source

The impact of leukodystrophies on parents' lives. [PDF]

J Pediatr Psychol
Zampini L, Cordolcini L, Draghi L, Zanchi P, Vaia Y, Bonaventura E, Tonduti D.   +6 more
europepmc   +1 more source

Cognitive and intellectual functioning in leukodystrophy patients: a systematic review. [PDF]

Orphanet J Rare Dis
Grol WHM, van der Knaap MS, Wolf NI, Geurtsen GJ.   +3 more
europepmc   +1 more source

A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms. [PDF]

NPJ Genom Med
Chapleau A, Perrier S, Durcan TM, Bernard G.   +3 more
europepmc   +1 more source

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family. [PDF]

, 2012
Bhatia, KP, Bras, J, Gibbons, V, Hardy, J, Houlden, H, Kojovic, M, Palmer, R, Rubio-Agusti, I, Saha, A, Sheerin, UM, Wood, NW   +10 more
core   +1 more source

Clinical and Genetic Characteristics of Leukodystrophies in Africa [PDF]

, 2017
Mutaz Amin, Liena E. O. Elsayed, Ammar Ahmed   +2 more
openalex   +1 more source

General Anaesthesia for a baby with Metachromatic Leukodystrophy

, 2023
Mustafa Mohammed Salih
openalex   +2 more sources

Psychological Framing of Illness: Early Family Trauma and Diagnostic Delay in Adult-Onset Metachromatic Leukodystrophy. [PDF]

Case Rep Psychiatry
Metelmann M, Köhler W, Schomerus G, Speerforck S.   +3 more
europepmc   +1 more source

Leukodystrophies

, 2008
Frank Gaillard, Rohit Sharma, Tariq Walizai   +2 more
openaire   +2 more sources